E161K (p.Glu161Lys) variant of ETFA (P13804)
E161K (p.Glu161Lys) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E161K (p.Glu161Lys) variant details
- p.Glu161Lys
- rs2543023611
- ClinGen CA393513728
- ClinVar RCV002811916
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 29.80
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)